A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677554



Internal ID9943659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:67053330..67054790hg38UCSC Ensembl
Outerchr16:67053293..67054840hg38UCSC Ensembl
Innerchr16:67087233..67088693hg19UCSC Ensembl
Outerchr16:67087196..67088743hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6549415, essv5662129
SamplesHG00177, HG00171
Known GenesCBFB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677554
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer